| Metadata | |
|---|---|
| ID | DOID:0070829 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070829 Copy |
| Name | microcephaly, epilepsy, and diabetes syndrome |
| Definition | A syndrome characterized by microcephaly, epilepsy, and infantile diabetes. https://pubmed.ncbi.nlm.nih.gov/33164986/, https://pubmed.ncbi.nlm.nih.gov/21835305/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:782825008 |
| SKOS |
exactMatch UMLS_CUI:C5190632 exactMatch ORDO:306558 exactMatch MIM:PS614231 broadMatch ICD10CM:Q87.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
MEDS [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |